Associated Papers
Expanding the Clinical and Genetic Spectrum of Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency: Insights From Two Unrelated Chinese Families.
Wu J et al.
Molecular Genetics & Genomic Medicine, 2025
Further delineation of short-chain enoyl-CoA hydratase deficiency in the Pacific population.
Bernhardt I et al.
Molecular Genetics and Metabolism, 2024
Novel ECHS1 mutations in Leigh syndrome identified by whole-exome sequencing in five Chinese families: case report.
Sun D et al.
Bmc Medical Genetics, 2020
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